Journal article
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes
- Abstract:
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Disclosing secondary findings (SF) from genome sequencing (GS) can alert carriers to disease risk. However, evidence around variant-disease association and consequences of disclosure for individuals and healthcare services is limited. We report on the feasibility of an approach to identification of SF in inherited cardiac conditions (ICC) genes in participants in a rare disease GS study, followed by targeted clinical evaluation. Qualitative methods were used to explore behavioural and psychos...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Supplementary materials, Version of record, 463.3KB)
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(Version of record, 723.4KB)
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- Publisher copy:
- 10.1038/s41431-020-0694-9
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Authors
Bibliographic Details
- Publisher:
- Springer Nature Publisher's website
- Journal:
- European Journal of Human Genetics Journal website
- Volume:
- 28
- Issue:
- 11
- Pages:
- 1486–1496
- Publication date:
- 2020-07-20
- Acceptance date:
- 2020-06-30
- DOI:
- EISSN:
-
1476-5438
- ISSN:
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1018-4813
Item Description
- Language:
- English
- Keywords:
- Pubs id:
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1115200
- Local pid:
- pubs:1115200
- Deposit date:
- 2020-06-30
Terms of use
- Copyright holder:
- Ormondroyd et al.
- Copyright date:
- 2020
- Rights statement:
- © The Author(s) 2020. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
- Licence:
- CC Attribution (CC BY)
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